[Genetic Testing for Alpha and Beta Thalassemia in Children in Quanzhou Region of Fujian Province in China]

Abstract

Objective: To analyze the genotypes and distribution of thalassemia in children in Quanzhou Region so as to provide reference for the prevention and control of thalassemia.

Methods: A total of 1 302 children with suspected thalassemia were collected from January 2014 to April 2020 in Quanzhou Region. The deletional α-thalassemia was detected by Gap-PCR, and DNA reverse dot blot (RDB) hybridization was used to detect α- and β-thalassemia mutations.

Results: In the 1 302 cases, 667 cases were identified as thalassemia carriers, and the positive detection rate was about 51.23%. Among them, 380 cases of α-thalassemia gene were detected, and --^SEA/αα was the most common genotype with the composition rate about 69.21%. Forty-two cases were identified as HbH disease, and -α^3.7/--^SEA was the most common genotype. While, 274 cases were identified as β-thalassemia, and β^IVS-Ⅱ-654/β^N (35.40%) and β^CD41-42/β^N (33.94%) were the most common genotypes. Seventeen cases of β-thalassemia major/intermedia were identified, and the most common genotypes were β^IVS-Ⅱ-654/β^IVS-Ⅱ-654 and β^IVS-Ⅱ-654/β^CD17. Meanwhile, 13 cases of α- complex β- thalassemia were detected. Among them, 1 case of β-thalassemia gene rare mutation Term CD+32 was firstly detected in Fujian Province, and 1 case of CD14-15 mutation was firstly detected in Quanzhou Region. In addition, 3 cases of abnormal hemoglobin disease were identified, in which 2 cases were Hb Q-Thailand and 1 case was Hb G-Honolulu.

Conclusion: There are various genotypes of thalassemia in children in Quanzhou Region, and many children with thalassemia major or intermedia. Therefore, further prevention and control of thalassemia need to be strengthened for reducing the birth of thalassemia major or intermedia.